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Biopterin defect in a normal-appearing child affected by a transient phenylketonuria.

A child diagnosed as having transient phenylketonuria was found to have reduced synthesis of tetrahydrobiopterin and an abnormal clearance of phenylalanine, but he remained clinically normal when on a normal diet. A small amount of 7,8-dihydrobiopterin was found in his serum; this distinguishes the...

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Detalhes bibliográficos
Main Authors: Rey, F, Leeming, R J, Blair, J A, Rey, J
Formato: Artigo
Idioma:Inglês
Publicado em: 1980
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1627059/
https://ncbi.nlm.nih.gov/pubmed/7436521
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